{"orpha":295036,"name":"Congenital patella dislocation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295036/","orphanet_url":"https://www.orpha.net/en/disease/detail/295036","names":{"fr":{"name":"Luxation congénitale de la rotule","definition":"Anomalie congénitale rare des membres caractérisée par une luxation latérale permanente et manuellement irréductible de la rotule. Elle se manifeste généralement par des contractures du genou en flexion, un genu valgum, une dysplasie de la trochlée ou l'absence de cette dernière, une rotation externe du tibia et un dysfonctionnement du mécanisme des muscles extenseurs. Unilatérale ou bilatérale, l'anomalie peut être isolée, associée à d'autres malformations des membres inférieurs ou être l'une des manifestations d'un syndrome polymalformatif."},"de":{"name":"Patelladislokation, kongenitale","definition":"Eine seltene angeborene Fehlbildung der Gliedmaßen, die durch eine permanente und manuell nicht reduzierbare seitliche Dislokation der Kniescheibe gekennzeichnet ist. Typisch sind eine Flexionskontraktur des Knies, ein Genu valgus, eine fehlende oder dysplastische Trochlearinne des Femurs, eine Außenrotation des Schienbeins und eine Funktionsstörung des Streckmechanismus. Der Defekt kann ein- oder beidseitig sein und als isolierte Fehlbildung auftreten, mit anderen Fehlbildungen der unteren Gliedmaßen assoziiert sein oder Teil eines polymalformativen Syndroms sein."},"es":{"name":"Luxación congénita de la rótula","definition":"Es una malformación congénita de las extremidades poco frecuente caracterizada por una luxación lateral permanente de la rótula irreducible manualmente. Se presenta típicamente con contracturas en flexión de la rodilla, genu valgo, surco troclear femoral ausente o displásico, rotación externa de la tibia y disfunción del aparato extensor. El defecto puede ser uni- o bilateral y puede presentarse como una malformación aislada, asociado a otras malformaciones de la extremidad inferior o formando parte de un síndrome polimalformativo."},"it":{"name":"Dislocazione congenita della rotula","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata da una dislocazione laterale permanente della rotula, che non può essere ridotta manualmente. Di solito si manifesta con contratture in flessione del ginocchio, ginocchio valgo, aplasia o displasia del solco trocleare del femore, rotazione esterna della tibia e disfunzione del meccanismo di estensione. Il difetto può essere monolaterale o bilaterale, isolato o associato ad altre malformazioni degli arti inferiori, oppure rientrare nel quadro clinico di una sindrome da malformazioni multiple."},"nl":{"name":"Congenitale patellaluxatie","definition":"Een zeldzame, congenitale ledemaatmalformatie, gekarakteriseerd door permanente en manueel irreponibele laterale dislocatie van de knieschijf. Het presenteert zich doorgaans met flexiecontractuur van de knie, genu valgus, afwezige of dysplastische trochlea van femur, externe rotatie van tibia, en disfunctie van het strekmechanisme. Het defect kan unilateraal of bilateraal zijn, en kan voorkomen als een geïsoleerde malformatie of geassocieerd zijn met andere malformaties van de onderste ledematen, of deel uitmaken van een polymalformatief syndroom."},"pt":{"name":"Luxação congénita da rótula"},"pl":{"name":"Wrodzone zwichnięcie rzepki"},"cs":{"name":"Vrozená dislokace čéšky"},"uk":{"name":"Вроджений вивих надколінка","definition":"A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome."},"zh":{"name":"先天性髌骨脱位","definition":"一种罕见的先天性肢体畸形，其特征为永久性和手法复位不能的膝盖骨侧向脱位。典型表现为膝关节屈曲挛缩、膝外翻、股骨滑车沟缺如或发育不良、胫骨外旋和伸肌功能障碍。缺损可为单侧或双侧，可为孤立性畸形，与其他下肢畸形有关，或是多发畸形综合征的一部分。"},"tr":{"name":"Doğumsal patella çıkığı"}},"xrefs":[{"source":"ICD-10","code":"Q74.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB94","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1383302301"},{"source":"MONDO","code":"0017471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345360","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295234,"name":"OBSOLETE: Congenital patella dislocation, unilateral","status":"inactive"},{"type":"Referred to","orpha":295237,"name":"OBSOLETE: Congenital patella dislocation, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294951,"name":"Congenital joint dislocations","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22287971[PMID]_19308591[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22287971[PMID]_19308591[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-28","source":"7379383[PMID]_20270374[PMID]_5651336[PMID]_22287971[PMID]_23963985[PMID]","terms":[{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009787","label":"Aplasia/Hypoplasia of the quadriceps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003066","label":"Limited knee extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null}]}}